Rare Disease Library

Punctate palmoplantar keratoderma type 1

Buschke-Fischer-Brauer syndrome · Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type

Ascher syndrome

Blepharochalasis-double lip syndrome

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

Miller Fisher syndrome

Cranial variant of GBS · Cranial variant of Guillain-Barré syndrome

Monoamine oxidase A deficiency

Brunner syndrome

Nephrosis-deafness-urinary tract-digital malformations syndrome

Braun-Bayer syndrome · Nephrosis-hearing loss-urinary tract-digital malformations syndrome

Thickened earlobes-conductive deafness syndrome

Thickened earlobes-conductive hearing loss syndrome · Escher-Hirt syndrome